S69R (p.Ser69Arg) variant of BAK1 (Q16611)
S69R (p.Ser69Arg) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S69R (p.Ser69Arg) variant details
- p.Ser69Arg
- rs5745592
- UniProt VAR 018830
- Ensembl rs5745592
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.12
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available